MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.100 None 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail
phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 19 0.100 None 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture
disease Digestive System Diseases Disease or Syndrome 20 2 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 26 5 0.100 None 0
CUI: C0013592
Disease: Ectropion
Ectropion
disease Eye Diseases Disease or Syndrome 50 3 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0005741
Disease: Blepharitis
Blepharitis
disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction
disease Respiratory Tract Diseases Disease or Syndrome 35 0.300 None 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes
phenotype Finding 4 0.100 None 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome
disease Digestive System Diseases; Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome 2 0.100 None 0
CUI: C1844555
Disease: Absent toenail
Absent toenail
phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 11 0.100 None 0
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.300 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0